Canonical Allele Identifier: CA8084002

Gene: CNGB1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57967178C>T , CM000678.2:g.57967178C>T	GRCh38
NC_000016.9:g.58001082C>T , CM000678.1:g.58001082C>T	GRCh37
NC_000016.8:g.56558583C>T	NCBI36
NG_016351.1:g.8939G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001297.5:c.109G>A MANE Select	NP_001288.3:p.Val37Met
ENST00000251102.13:c.109G>A MANE Select	ENSP00000251102.8:p.Val37Met
NM_001135639.1:c.109G>A	NP_001129111.1:p.Val37Met
NM_001135639.2:c.109G>A	NP_001129111.1:p.Val37Met
NM_001286130.1:c.109G>A	NP_001273059.1:p.Val37Met
NM_001286130.2:c.109G>A	NP_001273059.1:p.Val37Met
NM_001297.4:c.109G>A	NP_001288.3:p.Val37Met
ENST00000251102.12:c.109G>A	ENSP00000251102.8:p.Val37Met
ENST00000311183.8:c.109G>A	ENSP00000311670.4:p.Val37Met
ENST00000562761.1:c.109G>A	ENSP00000455708.1:p.Val37Met
ENST00000564448.5:c.109G>A	ENSP00000454633.1:p.Val37Met
ENST00000567568.1:n.167G>A
XM_006721134.2:c.109G>A	XP_006721197.1:p.Val37Met